ClinVar Miner

List of variants in gene USH2A reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_216465507)_(216501006_?)del
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.3(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.3(USH2A):c.10318del (p.Ile3440fs)
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.3(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.3(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.12067-2A>G rs397517978
NM_206933.3(USH2A):c.12093C>A (p.Tyr4031Ter) rs55921307
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.12232_12233GA[1] (p.Asn4079fs) rs398124618
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.1228G>T (p.Glu410Ter)
NM_206933.3(USH2A):c.12295-3T>A rs111033518
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.12794del (p.Gly4265fs)
NM_206933.3(USH2A):c.12854G>A (p.Trp4285Ter)
NM_206933.3(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13695T>G (p.Tyr4565Ter) rs1553252343
NM_206933.3(USH2A):c.14175G>A (p.Trp4725Ter) rs886042722
NM_206933.3(USH2A):c.14500_14501TC[1] (p.Pro4835fs) rs794727830
NM_206933.3(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.3(USH2A):c.15403del (p.Thr5135fs)
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3004del (p.Cys1002fs)
NM_206933.3(USH2A):c.3086del (p.Gly1029fs) rs886044060
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3224_3225dup (p.Pro1076fs)
NM_206933.3(USH2A):c.3296_3297del (p.Thr1099fs)
NM_206933.3(USH2A):c.3384_3417del (p.Asn1129fs)
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3788G>A (p.Trp1263Ter)
NM_206933.3(USH2A):c.4125del (p.Tyr1376fs) rs1064793506
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) rs111033367
NM_206933.3(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.486-1G>C rs876657730
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6325+1G>A
NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8546G>T (p.Gly2849Val) rs1064794034
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.8584C>T (p.Gln2862Ter)
NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9371+1G>C rs41308425
NM_206933.3(USH2A):c.9390G>A (p.Trp3130Ter) rs886042766
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.9570+1G>A rs760225886
NM_206933.3(USH2A):c.9676C>T (p.Arg3226Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.